Combined Immunodeficiency, X-Linked |
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Sinusitis, Pneumonia, Decreased circulating IgG level, Otitis media, Decreased proportion of CD4-... |
OMIM:312863 |
Immunodeficiency 18 |
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Decreased proportion of CD3-positive T cells, Recurrent otitis media, Defective T cell proliferat... |
OMIM:615615 |
Wiskott-Aldrich Syndrome 2 |
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Eczema, Defective T cell proliferation, Reduced natural killer cell activity, Decreased proportio... |
OMIM:614493 |
Immunodeficiency 15A |
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Recurrent otitis media, Acne inversa, Chronic mucocutaneous candidiasis, Decreased proportion of ... |
OMIM:618204 |
Immunodeficiency 24 |
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Decreased specific pneumococcal antibody level, Defective T cell proliferation, Decreased circula... |
OMIM:615897 |
Immunodeficiency 17 |
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Eczema, Recurrent otitis media, Decreased proportion of CD8-positive T cells, Autoimmune hemolyti... |
OMIM:615607 |
Lung Disease, Immunodeficiency, And Chromosome Breakage Syndrome |
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Eczema, Hypoplasia of the thymus, Reduced antigen-specific T cell proliferation, Increased circul... |
OMIM:617241 |
Splenomegaly Syndrome With Splenic Germinal Center Hypoplasia And Reduced Circulating T Helper Cells |
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Cutaneous anergy, Splenomegaly, Hypersplenism, Decreased helper T cell proportion, Pancytopenia |
OMIM:183350 |
Immunodeficiency, Partial Combined, With Absence Of Hla Determinants And Beta-2-Microglobulin From Lymphocytes |
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Decreased circulating IgG level, T lymphocytopenia |
OMIM:242870 |
Monocyte Chemotactic Disorder |
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Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:252250 |
Combined Cellular And Humoral Immune Defects With Granulomas |
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B lymphocytopenia, Decreased circulating IgG level, T lymphocytopenia |
OMIM:233650 |
Reticular Dysgenesis |
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Lack of T cell function, Leukopenia, Impaired T cell function, Hypoplasia of the thymus, Congenit... |
OMIM:267500 |
T-B+ Severe Combined Immunodeficiency Due To Il-7Ralpha Deficiency |
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Neutropenia, Erythroderma, Increased circulating IgA level, Decreased lymphocyte proliferation in... |
ORPHA:169154 |
Cd8 Deficiency, Familial |
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Absence of CD8-positive T cells, Bronchiectasis |
OMIM:608957 |
Immunodeficiency, Ovarian Dysgenesis, And Pulmonary Fibrosis |
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Decreased circulating IgA level, Decreased circulating IgG level, Decreased proportion of CD4-pos... |
OMIM:611926 |
Retinal Telangiectasia And Hypogammaglobulinemia |
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Reduced delayed hypersensitivity, Decreased circulating IgG level |
OMIM:267900 |
Caspase 8 Deficiency |
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Eczema, Pneumonia, Decreased circulating IgA level, Decreased circulating IgG level, Reduced CD95... |
OMIM:607271 |
Immunodeficiency 14A, Autosomal Dominant |
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Decreased specific pneumococcal antibody level, Increased proportion of transitional B cells, Dec... |
OMIM:615513 |
Immunodeficiency, Common Variable, 1 |
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B lymphocytopenia, Decreased proportion of class-switched memory B cells, Pneumonia, Neutropenia ... |
OMIM:607594 |
Severe Combined Immunodeficiency Due To Adenosine Deaminase Deficiency |
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Sinusitis, B lymphocytopenia, Inflammatory abnormality of the skin, Lack of T cell function, Recu... |
ORPHA:277 |
Immunodeficiency, X-Linked, With Magnesium Defect, Epstein-Barr Virus Infection, And Neoplasia |
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Decreased CD69 upregulation upon TCR activation, Bronchiectasis, Recurrent otitis media, Decrease... |
OMIM:300853 |
Immunodeficiency 50 |
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Eczema, Decreased circulating antibody level, Neutropenia, Lymphopenia |
OMIM:300988 |
Lymphoid System Deterioration, Progressive |
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Abnormal T cell morphology, Decreased circulating IgG level, Lymphopenia, Decreased circulating t... |
OMIM:247630 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Negative, Nk Cell-Positive |
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B lymphocytopenia, Pneumonia, Arthritis, Panhypogammaglobulinemia, Otitis media, T lymphocytopeni... |
OMIM:601457 |
Lymphopenic Hypergammaglobulinemia, Antibody Deficiency, Autoimmune Hemolytic Anemia, And Glomerulonephritis |
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Pneumonia, Increased circulating antibody level, Lymphopenia, Plasmacytosis, Glomerulonephritis, ... |
OMIM:247800 |
Autoimmune Disease, Multisystem, Infantile-Onset, 2 |
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Impaired lymphocyte transformation with phytohemagglutinin, Decreased specific pneumococcal antib... |
OMIM:617006 |
Severe Combined Immunodeficiency, X-Linked |
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Impaired lymphocyte transformation with phytohemagglutinin, Agammaglobulinemia, Pneumonia, Decrea... |
OMIM:300400 |
Immunodeficiency 72 With Autoinflammation |
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Increased B cell count, Herpes simplex encephalitis, Increased proportion of memory T cells, Bron... |
OMIM:618982 |
Immunodeficiency 70 |
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B lymphocytopenia, Decreased circulating total IgA, Decreased circulating total IgG, Decreased ci... |
OMIM:618969 |
Agammaglobulinemia 8, Autosomal Dominant |
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B lymphocytopenia, Agammaglobulinemia, Recurrent otitis media |
OMIM:616941 |
Combined Immunodeficiency Due To Zap70 Deficiency |
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Pneumonia, Stomatitis, Lymphadenitis, Chronic oral candidiasis, Decreased lymphocyte proliferatio... |
ORPHA:911 |
Immunodeficiency 81 |
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Decreased proportion of class-switched memory B cells, Recurrent cutaneous abscess formation, Abs... |
OMIM:619374 |
T-Cell Lymphopenia, Infantile, With Or Without Nail Dystrophy, Autosomal Dominant |
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Abnormally low T cell receptor excision circle level, Pneumonia, T lymphocytopenia, Atopic dermat... |
OMIM:618806 |
Candidiasis, Familial, 1 |
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Cutaneous anergy, Chronic mucocutaneous candidiasis |
OMIM:114580 |
Severe Combined Immunodeficiency Due To Foxn1 Deficiency |
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T lymphocytopenia |
ORPHA:169095 |
Cernunnos-Xlf Deficiency |
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B lymphocytopenia, Decreased circulating antibody level, Anemia, Lymphopenia, Thrombocytopenia, T... |
ORPHA:169079 |
Immunodeficiency 37 |
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Infectious encephalitis, Decreased circulating antibody level, Decreased proportion of central me... |
OMIM:616098 |
Immunodeficiency 52 |
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Bronchiectasis, Coombs-positive hemolytic anemia, Increased proportion of gamma-delta T cells, De... |
OMIM:617514 |
B-Cell Expansion With Nfkb And T-Cell Anergy |
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Increased B cell count, Decreased specific antibody response to polysaccharide vaccine, Decreased... |
OMIM:616452 |
Immunodeficiency 57 With Autoinflammation |
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B lymphocytopenia, Inflammation of the large intestine, Bronchiectasis, Decreased circulating ant... |
OMIM:618108 |
Immunodeficiency 85 And Autoimmunity |
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Eczema, Erythroderma, Decreased circulating IgA level, Oligoarthritis, Decreased circulating IgG ... |
OMIM:619510 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Positive |
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Eczema, Pneumonia, Splenomegaly, Otitis media, T lymphocytopenia |
OMIM:608971 |
Immunodeficiency 64 |
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Abnormal CD4:CD8 ratio, Defective T cell proliferation, Bronchiectasis, Increased circulating IgA... |
OMIM:618534 |
Selective Igm Deficiency |
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Non-infectious meningitis, Neutropenia in presence of anti-neutropil antibodies, Fasciitis, Decre... |
ORPHA:331235 |
Immunodeficiency, X-Linked, With Deficiency Of 115,000 Dalton Surface Glycoprotein |
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Abnormality of T cell physiology |
OMIM:308220 |
Immunodeficiency 13 |
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B lymphocytopenia, Bronchiectasis, Recurrent otitis media, Decreased proportion of CD4-positive h... |
OMIM:615518 |
Immunodeficiency 25 |
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Erythroderma, Complete or near-complete absence of specific antibody response to tetanus vaccine,... |
OMIM:610163 |
Autoimmune Lymphoproliferative Syndrome |
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Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
OMIM:601859 |
Severe Combined Immunodeficiency, Autosomal Recessive, T Cell-Negative, B Cell-Positive, Nk Cell-Negative |
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Impaired lymphocyte transformation with phytohemagglutinin, Pneumonia, Cutaneous anergy, Recurren... |
OMIM:600802 |
Immunodeficiency By Defective Expression Of Mhc Class Ii |
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Abnormal CD4:CD8 ratio, Sinusitis, Neutropenia, Lack of T cell function, Neutropenia in presence ... |
ORPHA:572 |
Griscelli Syndrome, Type 2 |
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Reduced delayed hypersensitivity, Hepatosplenomegaly, Hemophagocytosis |
OMIM:607624 |
T-Cell Immunodeficiency, Congenital Alopecia, And Nail Dystrophy |
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T lymphocytopenia, Decreased helper T cell proportion |
OMIM:601705 |
T-B+ Severe Combined Immunodeficiency Due To Jak3 Deficiency |
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B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Pustule, Lack of T... |
ORPHA:35078 |
Immunodeficiency With Hyper-Igm, Type 3 |
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Neutropenia, Decreased circulating IgA level, Decreased circulating IgG level, Impaired memory B ... |
OMIM:606843 |
T-B+ Severe Combined Immunodeficiency Due To Cd3Delta/Cd3Epsilon/Cd3Zeta |
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Decreased circulating total IgA, Erythroderma, Pneumonia, Decreased circulating IgG level, Hepati... |
ORPHA:169160 |
Wiskott-Aldrich Syndrome |
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Absent microvilli on the surface of peripheral blood lymphocytes, Impaired lymphocyte transformat... |
OMIM:301000 |
Immunodeficiency 14B, Autosomal Recessive |
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Thrombocytosis, Leukocytosis, B lymphocytopenia, Inflammation of the large intestine, Monocytosis... |
OMIM:619281 |
Immunodeficiency, Common Variable, 14 |
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Psoriasiform dermatitis, Decreased proportion of class-switched memory B cells, Decreased specifi... |
OMIM:617765 |
Combined Immunodeficiency Due To Dock8 Deficiency |
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Atopic dermatitis, B lymphocytopenia, Pneumonia, Chronic otitis media, Increased circulating IgE ... |
ORPHA:217390 |
T-B+ Severe Combined Immunodeficiency Due To Gamma Chain Deficiency |
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Decreased proportion of naive T cells, Pneumonia, Decreased circulating IgA level, Abnormal immun... |
ORPHA:276 |
Immunodeficiency, Common Variable, 2 |
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Bronchiectasis, Decreased circulating IgA level, Impaired T cell function, Decreased circulating ... |
OMIM:240500 |
Immunodeficiency 76 |
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B lymphocytopenia, Colitis, Splenomegaly, Recurrent pneumonia, Lymphopenia, T lymphocytopenia |
OMIM:619164 |
Autoimmune Lymphoproliferative Syndrome, Type Iia |
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Increased B cell count, Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory ... |
OMIM:603909 |
Immunodeficiency 73B With Defective Neutrophil Chemotaxis And Lymphopenia |
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B lymphocytopenia, Neutropenia, Leukopenia, Partial absence of specific antibody response to Haem... |
OMIM:618986 |
T-Cell Immunodeficiency With Thymic Aplasia |
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Abnormal T cell morphology, Eczematoid dermatitis, Pyoderma, Bronchiectasis, Aplasia of the thymu... |
OMIM:242700 |
Severe Combined Immunodeficiency Due To Complete Rag1/2 Deficiency |
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Abnormal B cell count, Decreased circulating IgA level, Lymphadenitis, Decreased circulating IgG ... |
ORPHA:331206 |
Lymphoproliferative Syndrome 1 |
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Leukopenia, Stomatitis, Decreased circulating IgG level, Decreased circulating antibody level, An... |
OMIM:613011 |
Immunodeficiency With Hyper-Igm, Type 1 |
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Neutropenia, Stomatitis, Decreased circulating IgA level, Chronic hepatitis, Decreased circulatin... |
OMIM:308230 |
Severe Combined Immunodeficiency Due To Dclre1C Deficiency |
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Decreased circulating IgA level, Decreased circulating IgG level, Chronic oral candidiasis, Decre... |
ORPHA:275 |
22q11 deletion syndrome (Velocardiofacial / DiGeorge syndrome) |
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T lymphocytopenia |
DECIPHER:16 |
Pgm3-Cdg |
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Eczema, Neutropenia, Neutropenia in presence of anti-neutropil antibodies, Chronic otitis media, ... |
ORPHA:443811 |
Immunodeficiency 68 |
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B lymphocytopenia, Lymphadenitis, Abscess, Septic arthritis, Recurrent skin infections, T lymphoc... |
OMIM:612260 |
Wiskott-Aldrich Syndrome, Autosomal Dominant |
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Absent microvilli on the surface of peripheral blood lymphocytes, Sinusitis, Eczema, Inflammation... |
OMIM:600903 |
Periodic Fever, Immunodeficiency, And Thrombocytopenia Syndrome |
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Abnormal CD4:CD8 ratio, B lymphocytopenia, Neutropenia, Bronchiectasis, Abscess, Chronic oral can... |
OMIM:150550 |
Combined Immunodeficiency Due To Partial Rag1 Deficiency |
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B lymphocytopenia, Interstitial pneumonitis, Neutropenia in presence of anti-neutropil antibodies... |
ORPHA:231154 |
Progressive Multifocal Leukoencephalopathy |
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Decreased proportion of CD8-positive T cells, Abnormal proportion of CD4-positive T cells |
ORPHA:217260 |
Immunodeficiency 41 With Lymphoproliferation And Autoimmunity |
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Hemolytic anemia, B lymphocytopenia, Eczema, Psoriasiform dermatitis, Erythroderma, Decreased cir... |
OMIM:606367 |
Bare Lymphocyte Syndrome, Type Ii |
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Cholangitis, Agammaglobulinemia, Infectious encephalitis, Neutropenia, Cutaneous anergy, Chronic ... |
OMIM:209920 |
Skeletal Dysplasia-T-Cell Immunodeficiency-Developmental Delay Syndrome |
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Decreased circulating IgG level, Decreased circulating antibody level, Decreased lymphocyte proli... |
ORPHA:508533 |
Purine Nucleoside Phosphorylase Deficiency |
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Sinusitis, Pneumonia, Neutropenia in presence of anti-neutropil antibodies, Impaired T cell funct... |
OMIM:613179 |
Immunodeficiency 22 |
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Panniculitis, Decreased proportion of CD4-positive helper T cells |
OMIM:615758 |
Autoimmune Lymphoproliferative Syndrome |
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Elevated proportion of CD4-negative, CD8-negative, alpha-beta regulatory T cells, Neutropenia in ... |
ORPHA:3261 |
Autoinflammation, Panniculitis, And Dermatosis Syndrome |
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Leukocytosis, Increased proportion of CD4-positive T cells, Increased circulating IgA level, Pann... |
OMIM:617099 |
Immunodeficiency 80 With Or Without Congenital Cardiomyopathy |
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B lymphocytopenia, Impaired lymphocyte transformation with phytohemagglutinin, Hypoplasia of the ... |
OMIM:619313 |
Immunodeficiency-Centromeric Instability-Facial Anomalies Syndrome 1 |
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Sinusitis, Pneumonia, Bronchiectasis, Decreased circulating IgA level, Reduced natural killer cel... |
OMIM:242860 |
Thymic Aplasia |
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Sinusitis, Eczematoid dermatitis, Decreased proportion of naive T cells, Pneumonia, Coombs-positi... |
ORPHA:83471 |
X-Linked Lymphoproliferative Disease |
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Myocarditis, Inflammation of the large intestine, Decreased circulating antibody level, Splenomeg... |
ORPHA:2442 |
Aregenerative Anemia |
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Neutropenia, Abnormal proportion of CD8-positive T cells, Abnormality of interleukin secretion, B... |
ORPHA:101096 |
Ataxia-Telangiectasia |
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Sinusitis, Bronchiectasis, Leukemia, Decreased circulating IgA level, Hypoplasia of the thymus, D... |
OMIM:208900 |
Epidermodysplasia Verruciformis, Susceptibility To, 5 |
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T lymphocytopenia, Lymphopenia |
OMIM:618309 |
Immunodeficiency 58 |
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Eczema, Allergic rhinitis, Decreased specific antibody response to vaccination, Recurrent cutaneo... |
OMIM:618131 |
Orotic Aciduria |
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Hypochromia, Impaired T cell function, Anisocytosis, Poikilocytosis, Pyrimidine-responsive megalo... |
OMIM:258900 |
Obesity Due To Congenital Leptin Deficiency |
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Decreased proportion of CD4-positive helper T cells, Decreased T cell activation |
ORPHA:66628 |
Inflammatory Bowel Disease, Immunodeficiency, And Encephalopathy |
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Leukocytosis, Thrombocytosis, Defective T cell proliferation, Increased circulating IgG level, Hy... |
OMIM:618213 |
Obesity Due To Leptin Receptor Gene Deficiency |
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Decreased proportion of CD4-positive helper T cells, Decreased T cell activation |
ORPHA:179494 |
Combined Immunodeficiency With Faciooculoskeletal Anomalies |
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B lymphocytopenia, Psoriasiform dermatitis, Decreased circulating total IgA, Decreased specific a... |
ORPHA:221139 |
Acrodermatitis Enteropathica, Zinc-Deficiency Type |
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Impaired T cell function, Splenomegaly |
OMIM:201100 |
Schimke Immuno-Osseous Dysplasia |
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Decreased proportion of naive CD8 T cells, Neutropenia, Minimal change glomerulonephritis, Impair... |
ORPHA:1830 |
Congenital Disorder Of Glycosylation, Type Iil |
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Inflammation of the large intestine, Impaired T cell function, Elevated circulating creatine kina... |
OMIM:614576 |
Vici Syndrome |
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Decreased circulating IgG level, Cutaneous anergy, Chronic mucocutaneous candidiasis, Decreased p... |
OMIM:242840 |
Immunodeficiency 82 With Systemic Inflammation |
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Hepatitis, Splenomegaly, Gastritis, Crohn's disease, Decreased circulating total IgM, Elevated ci... |
OMIM:619381 |
Bloom Syndrome |
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Acute lymphoblastic leukemia, Abnormal proportion of CD8-positive T cells, Pneumonia, Decreased c... |
ORPHA:125 |
Hereditary Orotic Aciduria |
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Impaired T cell function, Anemia, Splenomegaly |
ORPHA:30 |
Primary Sjögren Syndrome |
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Tubulointerstitial nephritis, Normochromic anemia, Decreased circulating antibody level, Parotiti... |
ORPHA:289390 |
Microsporidiosis |
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Brain abscess, Myocarditis, Sinusitis, Cholangitis, Hepatitis, Infectious encephalitis, Lymphaden... |
ORPHA:2552 |
Sarcoidosis, Susceptibility To, 1 |
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Inflammation of the large intestine, Bronchiectasis, Arthritis, Splenomegaly, Increased circulati... |
OMIM:181000 |
Hypoparathyroidism-Sensorineural Deafness-Renal Disease Syndrome |
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Psoriasiform dermatitis, Abnormality of T cell physiology |
ORPHA:2237 |
Progeroid Short Stature With Pigmented Nevi |
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Allergic conjunctivitis, Allergic rhinitis, Impaired T cell function |
OMIM:176690 |
22Q11.2 Deletion Syndrome |
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Impaired T cell function, Chronic otitis media, Seborrheic dermatitis, Hypoplasia of the thymus, ... |
ORPHA:567 |
Velocardiofacial Syndrome |
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Impaired T cell function |
OMIM:192430 |
Digeorge Syndrome |
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Seborrheic dermatitis, Acne, Impaired T cell function |
OMIM:188400 |
Cavitary Optic Disc Anomalies |
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OMIM:611543 |